Linked Data
ClinVar Variation Id:
505063
ClinVar RCV Id:
RCV000614857
dbSNP Id:
rs781945750
ExAC:
17:79478468 C / T
gnomAD v2:
17-79478468-C-T
gnomAD v4:
17-81511442-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.81511442C>T , CM000679.2:g.81511442C>T | GRCh38 |
| NC_000017.10:g.79478468C>T , CM000679.1:g.79478468C>T | GRCh37 |
| NC_000017.9:g.77093063C>T | NCBI36 |
| NG_011433.1:g.6360G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.548G>A | ENSP00000466346.2:p.Arg183Gln | |
| ENST00000571691.6:c.476G>A | ENSP00000461407.2:p.Arg159Gln | |
| ENST00000571721.6:c.548G>A | ENSP00000460660.2:p.Arg183Gln | |
| ENST00000572105.7:c.589G>A | ENSP00000462823.1:p.Gly197Arg | |
| ENST00000573283.7:c.548G>A MANE Select | ENSP00000458435.1:p.Arg183Gln | |
| ENST00000574671.6:n.948G>A | ||
| ENST00000575659.6:c.548G>A | ENSP00000459119.2:p.Arg183Gln | |
| ENST00000575994.6:c.548G>A | ENSP00000460464.2:p.Arg183Gln | |
| ENST00000576214.3:n.849G>A | ||
| ENST00000576544.6:c.548G>A | ENSP00000461672.1:p.Arg183Gln | |
| ENST00000615544.5:c.548G>A | ENSP00000477968.1:p.Arg183Gln | |
| ENST00000644774.2:c.521G>A | ENSP00000493648.2:p.Arg174Gln | |
| ENST00000679410.1:n.672G>A | ||
| ENST00000679480.1:c.548G>A | ENSP00000506201.1:p.Arg183Gln | |
| ENST00000679535.1:n.849G>A | ||
| ENST00000679778.1:c.548G>A | ENSP00000505235.1:p.Arg183Gln | |
| ENST00000680227.1:c.548G>A | ENSP00000506253.1:p.Arg183Gln | |
| ENST00000680727.1:c.548G>A | ENSP00000505193.1:p.Arg183Gln | |
| ENST00000681052.1:c.548G>A | ENSP00000505060.1:p.Arg183Gln | |
| ENST00000681092.1:c.*352G>A | ENSP00000506720.1:n.*352G>A | |
| ENST00000681842.1:c.548G>A | ENSP00000506126.1:p.Arg183Gln | |
| ENST00000331925.6:c.548G>A | ENSP00000331514.2:p.Arg183Gln | |
| ENST00000571691.5:c.521G>A | ENSP00000461407.1:p.Arg174Gln | |
| ENST00000572105.6:c.589G>A | ENSP00000462823.1:p.Gly197Arg | |
| ENST00000573283.5:c.548G>A | ENSP00000458435.1:p.Arg183Gln | |
| ENST00000574671.5:n.407G>A | ||
| ENST00000575087.5:c.548G>A | ENSP00000459124.1:p.Arg183Gln | |
| ENST00000575659.5:c.548G>A | ENSP00000459119.1:p.Arg183Gln | |
| ENST00000575842.5:c.548G>A | ENSP00000458162.1:p.Arg183Gln | |
| ENST00000575994.5:c.548G>A | ENSP00000460464.1:p.Arg183Gln | |
| ENST00000576209.5:n.433G>A | ||
| ENST00000576214.2:n.746G>A | ||
| ENST00000576544.5:c.548G>A | ENSP00000461672.1:p.Arg183Gln | |
| ENST00000576917.5:n.601G>A | ||
| ENST00000615544.4:c.548G>A | ENSP00000477968.1:p.Arg183Gln | |
| NM_001199954.1:c.548G>A | NP_001186883.1:p.Arg183Gln | |
| NM_001614.3:c.548G>A | NP_001605.1:p.Arg183Gln | |
| NR_037688.1:n.687G>A | ||
| NM_001199954.2:c.548G>A | NP_001186883.1:p.Arg183Gln | |
| NM_001614.4:c.548G>A | NP_001605.1:p.Arg183Gln | |
| NR_037688.2:n.620G>A | ||
| NM_001614.5:c.548G>A MANE Select | NP_001605.1:p.Arg183Gln | |
| NR_037688.3:n.620G>A | ||
| NM_001199954.3:c.548G>A | NP_001186883.1:p.Arg183Gln |